title: β-globin gene cluster haplotypes in sickle cell patients from Panamá.
abstract: OBJECTIVE
  To analyze the frequency of the haplotypes of β-globin gene cluster in randomly selected patients with sickle cell disease (SCD), attended in the Children's Hospital of Panama.
  
  
  METHODS
  Five polymorphic sites in the β-globin gene cluster were analyzed by polymerase chain reaction (PCR) followed by restriction digestion and agarose gel electrophoresis in a total of 100 patients, including 95 homozygous for HbS (sickle cell anemia) and 5 compound heterozygotes for HbS and HbC genes (HbSC disease).
  
  
  RESULTS
  The Bantu haplotype was predominant with a frequency of 51%, followed by the Benin (30%), Senegal (8.5%), and Cameroon (4%); other haplotypes were also identified. Genotype was CAR/CAR in 39 patients, BEN/BEN in 22, SEN/SEN in 6, CAM/CAM in 4, ARB/ARB in 1, CAR/BEN in 15, CAR/SEN in 5, CAR/Hp5 in 3, CAR/Hp1 in 1, BEN/Hp11 in 1, Atp Hp1/Hp1 in 2, and Atp Hp5/Hp5 in 1 individual. Hemoglobin concentrations, hematocrit, and mean corpuscular hemoglobin concentration values did not differ among homozygous forms of haplotypes. The mean HbF in all patients was 15.39 ± 1.21, whereas SEN/SEN patients had higher HbF than BEN/BEN patients (24.26 ± 4.18 vs. 13.17 ± 2.39, respectively, P < 0.05). The percentage of reticulocytes was highest in BEN/BEN and CAR/CAR, and it was associated with worst prognosis.
  
  
  CONCLUSIONS
  The results show the presence of common β(S) haplotypes in Panama; the prevalence of African origin, and the similarity in the Panamanian and Colombian distribution of haplotypes.
authors.affiliation: Departamento de Biomédica, Universidad Especializada de las Américas, Panamá, República de Panamá.
authors.forename: Iryna
authors.initials: I
authors.lastname: Rusanova
authors.forename: Gladys
authors.initials: G
authors.lastname: Cossio
authors.forename: Bélgica
authors.initials: B
authors.lastname: Moreno
authors.forename: F
authors.initials: F
authors.lastname: Javier Perea
authors.forename: Rosaura G
authors.initials: RG
authors.lastname: De Borace
authors.forename: Mauricio
authors.initials: M
authors.lastname: Perea
authors.forename: Germaine
authors.initials: G
authors.lastname: Escames
authors.forename: Darío
authors.initials: D
authors.lastname: Acuña-Castroviejo
mesh_terms: D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004913:Erythrocytes, Abnormal / Q000473:pathology; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006760:Hospitalization; D006801:Humans; D007223:Infant; D008297:Male; D005810:Multigene Family; D010176:Panama; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle; D055544:beta-Globins; D005319:Fetal Hemoglobin